Incidental Mutation 'R5385:Ankhd1'
ID |
425154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankhd1
|
Ensembl Gene |
ENSMUSG00000024483 |
Gene Name |
ankyrin repeat and KH domain containing 1 |
Synonyms |
A530027J04Rik, 9130019P20Rik, 4933432B13Rik, 1110004O12Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5385 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
36693656-36791961 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36724548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 402
(E402G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006205]
[ENSMUST00000142977]
[ENSMUST00000155329]
|
AlphaFold |
E9PUR0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006205
AA Change: E402G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000006205 Gene: ENSMUSG00000024483 AA Change: E402G
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142977
AA Change: E402G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000120290 Gene: ENSMUSG00000024483 AA Change: E402G
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2334 |
2346 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155329
AA Change: E402G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000123270 Gene: ENSMUSG00000024483 AA Change: E402G
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
38 |
N/A |
INTRINSIC |
low complexity region
|
48 |
78 |
N/A |
INTRINSIC |
low complexity region
|
91 |
109 |
N/A |
INTRINSIC |
ANK
|
207 |
236 |
2.11e2 |
SMART |
ANK
|
240 |
269 |
3.31e-1 |
SMART |
ANK
|
274 |
303 |
5.24e-4 |
SMART |
ANK
|
307 |
336 |
7.64e-6 |
SMART |
ANK
|
340 |
369 |
2.7e-6 |
SMART |
ANK
|
374 |
403 |
3.23e-4 |
SMART |
ANK
|
407 |
436 |
1.61e-4 |
SMART |
ANK
|
440 |
469 |
5.16e-3 |
SMART |
ANK
|
473 |
502 |
4.16e-7 |
SMART |
ANK
|
507 |
536 |
1.68e-2 |
SMART |
ANK
|
537 |
566 |
7.02e-5 |
SMART |
ANK
|
570 |
599 |
7.95e-4 |
SMART |
ANK
|
603 |
632 |
4.56e-4 |
SMART |
ANK
|
637 |
666 |
9.64e-3 |
SMART |
ANK
|
670 |
699 |
6.71e-2 |
SMART |
coiled coil region
|
815 |
855 |
N/A |
INTRINSIC |
ANK
|
1057 |
1086 |
2.07e-2 |
SMART |
ANK
|
1090 |
1119 |
2.48e-5 |
SMART |
ANK
|
1124 |
1153 |
3.85e-2 |
SMART |
ANK
|
1157 |
1186 |
1.61e-4 |
SMART |
ANK
|
1192 |
1221 |
1.24e-5 |
SMART |
ANK
|
1226 |
1255 |
1.59e-3 |
SMART |
ANK
|
1259 |
1288 |
3.91e-3 |
SMART |
ANK
|
1294 |
1323 |
5.93e-3 |
SMART |
ANK
|
1327 |
1356 |
9.41e-6 |
SMART |
ANK
|
1360 |
1393 |
3.8e-1 |
SMART |
coiled coil region
|
1422 |
1486 |
N/A |
INTRINSIC |
low complexity region
|
1509 |
1526 |
N/A |
INTRINSIC |
low complexity region
|
1538 |
1557 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1604 |
N/A |
INTRINSIC |
KH
|
1693 |
1763 |
5.04e-13 |
SMART |
low complexity region
|
1968 |
2001 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2057 |
N/A |
INTRINSIC |
low complexity region
|
2064 |
2081 |
N/A |
INTRINSIC |
low complexity region
|
2342 |
2362 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 129 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17a |
T |
C |
10: 80,421,446 (GRCm39) |
T175A |
probably benign |
Het |
Adam23 |
A |
G |
1: 63,590,970 (GRCm39) |
D479G |
possibly damaging |
Het |
Adgrl3 |
T |
G |
5: 81,874,648 (GRCm39) |
Y1050D |
probably damaging |
Het |
Ago4 |
A |
G |
4: 126,411,349 (GRCm39) |
I103T |
probably benign |
Het |
Ajuba |
T |
C |
14: 54,807,855 (GRCm39) |
Y459C |
probably damaging |
Het |
Aldh7a1 |
T |
A |
18: 56,667,325 (GRCm39) |
N316Y |
possibly damaging |
Het |
Alyref2 |
A |
G |
1: 171,331,271 (GRCm39) |
N16S |
probably benign |
Het |
Ankrd36 |
A |
G |
11: 5,639,340 (GRCm39) |
|
probably benign |
Het |
Ap2b1 |
T |
C |
11: 83,233,427 (GRCm39) |
V480A |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,235,848 (GRCm39) |
R741G |
probably benign |
Het |
Canx |
A |
G |
11: 50,192,639 (GRCm39) |
L325P |
probably damaging |
Het |
Ccpg1 |
G |
A |
9: 72,920,326 (GRCm39) |
S647N |
probably benign |
Het |
Cdc37l1 |
T |
G |
19: 28,989,343 (GRCm39) |
S267A |
possibly damaging |
Het |
Cert1 |
A |
G |
13: 96,765,575 (GRCm39) |
T447A |
possibly damaging |
Het |
Ces1f |
A |
T |
8: 93,992,388 (GRCm39) |
C354* |
probably null |
Het |
Cpne1 |
A |
T |
2: 155,916,284 (GRCm39) |
V350D |
probably damaging |
Het |
Ctdsp2 |
A |
G |
10: 126,832,326 (GRCm39) |
T262A |
probably benign |
Het |
Cypt4 |
A |
G |
9: 24,536,596 (GRCm39) |
K29E |
possibly damaging |
Het |
Dlg2 |
T |
C |
7: 91,737,784 (GRCm39) |
V422A |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,286,041 (GRCm39) |
S2715P |
probably benign |
Het |
Dnah3 |
T |
A |
7: 119,524,126 (GRCm39) |
K3953N |
probably damaging |
Het |
Dnmt1 |
A |
G |
9: 20,829,776 (GRCm39) |
V647A |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,125,617 (GRCm39) |
V330A |
probably benign |
Het |
Dusp8 |
T |
A |
7: 141,643,730 (GRCm39) |
Q61L |
possibly damaging |
Het |
Dync2h1 |
T |
C |
9: 7,016,791 (GRCm39) |
D3573G |
probably damaging |
Het |
Ears2 |
G |
C |
7: 121,643,600 (GRCm39) |
T426S |
probably benign |
Het |
Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
Fam91a1 |
G |
A |
15: 58,320,243 (GRCm39) |
S645N |
probably benign |
Het |
Fat3 |
A |
T |
9: 15,833,971 (GRCm39) |
L4207Q |
possibly damaging |
Het |
Fbxo38 |
A |
G |
18: 62,674,042 (GRCm39) |
M13T |
probably benign |
Het |
Fbxo48 |
G |
T |
11: 16,904,329 (GRCm39) |
L160F |
possibly damaging |
Het |
Fer1l4 |
G |
A |
2: 155,879,286 (GRCm39) |
Q906* |
probably null |
Het |
Fpr2 |
C |
A |
17: 18,113,309 (GRCm39) |
H102N |
probably benign |
Het |
Gm10134 |
T |
A |
2: 28,396,372 (GRCm39) |
|
probably benign |
Het |
Gpr107 |
A |
G |
2: 31,104,263 (GRCm39) |
T523A |
probably benign |
Het |
Grin3a |
G |
A |
4: 49,719,313 (GRCm39) |
P811L |
probably damaging |
Het |
Hivep1 |
A |
T |
13: 42,317,871 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
A |
G |
2: 31,350,333 (GRCm39) |
T5077A |
probably benign |
Het |
Hpse |
C |
T |
5: 100,856,590 (GRCm39) |
W136* |
probably null |
Het |
Ifitm3 |
T |
C |
7: 140,590,554 (GRCm39) |
N2S |
probably benign |
Het |
Ifnar2 |
T |
A |
16: 91,201,086 (GRCm39) |
D442E |
possibly damaging |
Het |
Jade1 |
T |
A |
3: 41,546,137 (GRCm39) |
I54N |
probably damaging |
Het |
Jag1 |
A |
T |
2: 136,937,464 (GRCm39) |
H303Q |
possibly damaging |
Het |
Kcnh4 |
T |
C |
11: 100,643,076 (GRCm39) |
D397G |
probably damaging |
Het |
Kcnj1 |
A |
G |
9: 32,308,019 (GRCm39) |
R148G |
probably damaging |
Het |
Lct |
T |
G |
1: 128,239,354 (GRCm39) |
K277N |
possibly damaging |
Het |
Loxl3 |
A |
G |
6: 83,027,593 (GRCm39) |
M712V |
probably damaging |
Het |
Ly75 |
A |
G |
2: 60,133,985 (GRCm39) |
C1547R |
probably damaging |
Het |
Marcks |
A |
G |
10: 37,014,453 (GRCm39) |
S27P |
probably damaging |
Het |
Mef2c |
A |
G |
13: 83,810,532 (GRCm39) |
T347A |
probably benign |
Het |
Mmp3 |
C |
T |
9: 7,451,759 (GRCm39) |
R366* |
probably null |
Het |
Mrgprx2 |
T |
C |
7: 48,132,753 (GRCm39) |
T22A |
probably benign |
Het |
Msc |
C |
A |
1: 14,825,644 (GRCm39) |
R110L |
probably damaging |
Het |
Mtcl3 |
A |
G |
10: 29,072,766 (GRCm39) |
D686G |
probably benign |
Het |
Myh11 |
A |
T |
16: 14,025,872 (GRCm39) |
V1366D |
possibly damaging |
Het |
Ncf1 |
A |
G |
5: 134,250,659 (GRCm39) |
L373P |
probably damaging |
Het |
Neb |
A |
T |
2: 52,079,873 (GRCm39) |
I85N |
probably damaging |
Het |
Nfkb1 |
A |
G |
3: 135,318,303 (GRCm39) |
V310A |
possibly damaging |
Het |
Nop2 |
T |
C |
6: 125,121,324 (GRCm39) |
V702A |
probably benign |
Het |
Nudt12 |
A |
G |
17: 59,310,434 (GRCm39) |
W390R |
probably damaging |
Het |
Or10ag53 |
C |
T |
2: 87,082,827 (GRCm39) |
P182L |
probably benign |
Het |
Or10v9 |
T |
A |
19: 11,832,541 (GRCm39) |
I259F |
probably damaging |
Het |
Or11g24 |
T |
A |
14: 50,662,846 (GRCm39) |
V290E |
possibly damaging |
Het |
Or1af1 |
G |
T |
2: 37,109,599 (GRCm39) |
A33S |
possibly damaging |
Het |
Or51e1 |
T |
C |
7: 102,358,553 (GRCm39) |
L29P |
probably damaging |
Het |
Or6c208 |
A |
G |
10: 129,223,633 (GRCm39) |
I44V |
probably benign |
Het |
Or6n2 |
A |
T |
1: 173,897,036 (GRCm39) |
K57N |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,623,317 (GRCm39) |
V86E |
probably damaging |
Het |
Or8c11 |
A |
T |
9: 38,289,281 (GRCm39) |
I29F |
probably benign |
Het |
Or8g2b |
A |
G |
9: 39,751,126 (GRCm39) |
Y132C |
possibly damaging |
Het |
Otub2 |
G |
A |
12: 103,359,055 (GRCm39) |
|
probably benign |
Het |
Pck2 |
A |
G |
14: 55,782,688 (GRCm39) |
E339G |
probably damaging |
Het |
Pdcd7 |
G |
A |
9: 65,265,974 (GRCm39) |
W477* |
probably null |
Het |
Pdpk1 |
G |
A |
17: 24,317,114 (GRCm39) |
Q250* |
probably null |
Het |
Pigb |
T |
A |
9: 72,946,827 (GRCm39) |
H16L |
probably benign |
Het |
Pitpnm1 |
T |
C |
19: 4,153,435 (GRCm39) |
F197S |
probably damaging |
Het |
Plekhh2 |
T |
C |
17: 84,864,894 (GRCm39) |
V94A |
probably benign |
Het |
Pnpla7 |
C |
A |
2: 24,931,031 (GRCm39) |
P882Q |
probably damaging |
Het |
Pold2 |
A |
G |
11: 5,826,760 (GRCm39) |
L58P |
probably damaging |
Het |
Pomt1 |
C |
G |
2: 32,134,311 (GRCm39) |
Y277* |
probably null |
Het |
Prex2 |
A |
G |
1: 11,210,204 (GRCm39) |
D548G |
probably damaging |
Het |
Prkra |
T |
G |
2: 76,469,622 (GRCm39) |
T146P |
probably damaging |
Het |
Prss51 |
T |
A |
14: 64,334,543 (GRCm39) |
V108E |
probably damaging |
Het |
Rai2 |
A |
G |
X: 160,561,636 (GRCm39) |
N363S |
probably benign |
Het |
Ranbp17 |
A |
T |
11: 33,169,241 (GRCm39) |
V991D |
possibly damaging |
Het |
Riox2 |
T |
A |
16: 59,306,979 (GRCm39) |
M290K |
probably benign |
Het |
Rnpepl1 |
T |
A |
1: 92,844,914 (GRCm39) |
L402Q |
probably damaging |
Het |
S1pr2 |
T |
C |
9: 20,878,890 (GRCm39) |
T313A |
probably benign |
Het |
Sesn2 |
A |
G |
4: 132,226,575 (GRCm39) |
I173T |
probably damaging |
Het |
Setx |
T |
G |
2: 29,024,045 (GRCm39) |
|
probably null |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Sgsm3 |
T |
C |
15: 80,892,200 (GRCm39) |
V256A |
probably benign |
Het |
Shroom4 |
T |
A |
X: 6,497,523 (GRCm39) |
C894* |
probably null |
Het |
Slc13a5 |
T |
A |
11: 72,149,903 (GRCm39) |
E159D |
probably benign |
Het |
Slc16a7 |
A |
G |
10: 125,130,473 (GRCm39) |
Y71H |
possibly damaging |
Het |
Slc28a2b |
C |
A |
2: 122,353,259 (GRCm39) |
L480I |
probably benign |
Het |
Slc4a7 |
T |
C |
14: 14,773,345 (GRCm38) |
F772L |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,264,515 (GRCm39) |
S275P |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,968,580 (GRCm39) |
T558A |
possibly damaging |
Het |
Sspo |
C |
T |
6: 48,439,187 (GRCm39) |
P1612S |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,531,111 (GRCm39) |
E2456G |
probably damaging |
Het |
Stx1b |
A |
T |
7: 127,414,575 (GRCm39) |
D16E |
probably benign |
Het |
Supv3l1 |
A |
T |
10: 62,266,375 (GRCm39) |
N600K |
possibly damaging |
Het |
Syne1 |
C |
T |
10: 4,991,494 (GRCm39) |
V557I |
probably benign |
Het |
Tanc2 |
T |
A |
11: 105,667,672 (GRCm39) |
D84E |
probably damaging |
Het |
Tep1 |
A |
T |
14: 51,105,774 (GRCm39) |
L82Q |
probably damaging |
Het |
Tfip11 |
T |
C |
5: 112,479,086 (GRCm39) |
|
probably null |
Het |
Thtpa |
G |
T |
14: 55,333,290 (GRCm39) |
R125L |
probably damaging |
Het |
Tm9sf1 |
C |
T |
14: 55,880,301 (GRCm39) |
G32D |
possibly damaging |
Het |
Tmcc3 |
A |
T |
10: 94,415,015 (GRCm39) |
N239I |
probably damaging |
Het |
Tpd52 |
A |
T |
3: 8,996,255 (GRCm39) |
|
probably null |
Het |
Traf6 |
T |
A |
2: 101,515,100 (GRCm39) |
C85* |
probably null |
Het |
Trim68 |
T |
G |
7: 102,327,990 (GRCm39) |
D321A |
probably damaging |
Het |
Trmt6 |
C |
A |
2: 132,650,703 (GRCm39) |
A302S |
probably benign |
Het |
Ttbk1 |
T |
C |
17: 46,758,558 (GRCm39) |
D692G |
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,133,985 (GRCm39) |
W1067R |
probably damaging |
Het |
Ttc6 |
T |
A |
12: 57,689,821 (GRCm39) |
|
probably null |
Het |
Tut7 |
A |
T |
13: 59,937,660 (GRCm39) |
|
probably null |
Het |
Txnrd2 |
T |
G |
16: 18,296,442 (GRCm39) |
I468S |
probably damaging |
Het |
Ube2b |
A |
T |
11: 51,879,471 (GRCm39) |
Y100N |
probably damaging |
Het |
Ucn3 |
A |
T |
13: 3,991,474 (GRCm39) |
F59L |
probably benign |
Het |
Uggt1 |
A |
G |
1: 36,223,493 (GRCm39) |
Y599H |
probably damaging |
Het |
Ulk3 |
T |
A |
9: 57,498,023 (GRCm39) |
I108N |
possibly damaging |
Het |
Vav3 |
A |
G |
3: 109,434,791 (GRCm39) |
M441V |
possibly damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,008,819 (GRCm39) |
D499E |
possibly damaging |
Het |
Vmn2r118 |
C |
T |
17: 55,918,565 (GRCm39) |
G109D |
probably benign |
Het |
Vmn2r5 |
T |
A |
3: 64,416,931 (GRCm39) |
M76L |
probably benign |
Het |
Vwa3a |
A |
G |
7: 120,389,365 (GRCm39) |
K68E |
possibly damaging |
Het |
Zmiz1 |
A |
T |
14: 25,650,237 (GRCm39) |
Y459F |
probably damaging |
Het |
|
Other mutations in Ankhd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Ankhd1
|
APN |
18 |
36,798,512 (GRCm39) |
unclassified |
probably benign |
|
IGL00927:Ankhd1
|
APN |
18 |
36,765,125 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01367:Ankhd1
|
APN |
18 |
36,711,696 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01624:Ankhd1
|
APN |
18 |
36,791,066 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01725:Ankhd1
|
APN |
18 |
36,781,206 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01767:Ankhd1
|
APN |
18 |
36,781,427 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02005:Ankhd1
|
APN |
18 |
36,781,479 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02009:Ankhd1
|
APN |
18 |
36,757,714 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02246:Ankhd1
|
APN |
18 |
36,789,779 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02336:Ankhd1
|
APN |
18 |
36,727,867 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02628:Ankhd1
|
APN |
18 |
36,780,756 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02644:Ankhd1
|
APN |
18 |
36,711,828 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02735:Ankhd1
|
APN |
18 |
36,781,599 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02877:Ankhd1
|
APN |
18 |
36,727,876 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03129:Ankhd1
|
APN |
18 |
36,791,061 (GRCm39) |
nonsense |
probably null |
|
IGL03163:Ankhd1
|
APN |
18 |
36,780,681 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03182:Ankhd1
|
APN |
18 |
36,711,827 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03184:Ankhd1
|
APN |
18 |
36,780,830 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03398:Ankhd1
|
APN |
18 |
36,789,890 (GRCm39) |
splice site |
probably benign |
|
FR4304:Ankhd1
|
UTSW |
18 |
36,693,977 (GRCm39) |
small insertion |
probably benign |
|
R0051:Ankhd1
|
UTSW |
18 |
36,780,241 (GRCm39) |
unclassified |
probably benign |
|
R0089:Ankhd1
|
UTSW |
18 |
36,773,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R0105:Ankhd1
|
UTSW |
18 |
36,779,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Ankhd1
|
UTSW |
18 |
36,780,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R0243:Ankhd1
|
UTSW |
18 |
36,767,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R0322:Ankhd1
|
UTSW |
18 |
36,791,061 (GRCm39) |
nonsense |
probably null |
|
R0361:Ankhd1
|
UTSW |
18 |
36,780,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Ankhd1
|
UTSW |
18 |
36,777,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0418:Ankhd1
|
UTSW |
18 |
36,767,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R0443:Ankhd1
|
UTSW |
18 |
36,777,652 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0540:Ankhd1
|
UTSW |
18 |
36,773,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0607:Ankhd1
|
UTSW |
18 |
36,773,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R0738:Ankhd1
|
UTSW |
18 |
36,778,302 (GRCm39) |
splice site |
probably benign |
|
R1127:Ankhd1
|
UTSW |
18 |
36,767,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R1434:Ankhd1
|
UTSW |
18 |
36,758,212 (GRCm39) |
missense |
probably benign |
0.09 |
R1742:Ankhd1
|
UTSW |
18 |
36,758,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Ankhd1
|
UTSW |
18 |
36,780,361 (GRCm39) |
missense |
probably benign |
0.17 |
R1856:Ankhd1
|
UTSW |
18 |
36,777,580 (GRCm39) |
missense |
probably benign |
0.00 |
R1923:Ankhd1
|
UTSW |
18 |
36,781,083 (GRCm39) |
missense |
probably benign |
0.08 |
R2044:Ankhd1
|
UTSW |
18 |
36,778,166 (GRCm39) |
missense |
probably benign |
0.31 |
R2112:Ankhd1
|
UTSW |
18 |
36,774,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R2115:Ankhd1
|
UTSW |
18 |
36,767,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R2136:Ankhd1
|
UTSW |
18 |
36,780,674 (GRCm39) |
missense |
probably benign |
|
R2196:Ankhd1
|
UTSW |
18 |
36,781,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Ankhd1
|
UTSW |
18 |
36,777,386 (GRCm39) |
missense |
probably benign |
0.31 |
R2305:Ankhd1
|
UTSW |
18 |
36,775,979 (GRCm39) |
missense |
possibly damaging |
0.59 |
R2309:Ankhd1
|
UTSW |
18 |
36,757,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R2519:Ankhd1
|
UTSW |
18 |
36,711,596 (GRCm39) |
splice site |
probably null |
|
R2958:Ankhd1
|
UTSW |
18 |
36,767,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R3978:Ankhd1
|
UTSW |
18 |
36,780,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R3980:Ankhd1
|
UTSW |
18 |
36,780,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R4159:Ankhd1
|
UTSW |
18 |
36,722,593 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4199:Ankhd1
|
UTSW |
18 |
36,794,101 (GRCm39) |
unclassified |
probably benign |
|
R4323:Ankhd1
|
UTSW |
18 |
36,711,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Ankhd1
|
UTSW |
18 |
36,776,096 (GRCm39) |
nonsense |
probably null |
|
R4496:Ankhd1
|
UTSW |
18 |
36,693,839 (GRCm39) |
missense |
probably damaging |
0.98 |
R4551:Ankhd1
|
UTSW |
18 |
36,788,560 (GRCm39) |
splice site |
probably null |
|
R4590:Ankhd1
|
UTSW |
18 |
36,716,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R4667:Ankhd1
|
UTSW |
18 |
36,781,074 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4889:Ankhd1
|
UTSW |
18 |
36,711,787 (GRCm39) |
missense |
probably null |
0.00 |
R4923:Ankhd1
|
UTSW |
18 |
36,722,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R5091:Ankhd1
|
UTSW |
18 |
36,758,080 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5254:Ankhd1
|
UTSW |
18 |
36,789,768 (GRCm39) |
missense |
probably benign |
0.05 |
R5314:Ankhd1
|
UTSW |
18 |
36,694,111 (GRCm39) |
splice site |
probably null |
|
R5336:Ankhd1
|
UTSW |
18 |
36,779,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R5367:Ankhd1
|
UTSW |
18 |
36,722,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R5384:Ankhd1
|
UTSW |
18 |
36,724,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5387:Ankhd1
|
UTSW |
18 |
36,767,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R5458:Ankhd1
|
UTSW |
18 |
36,781,538 (GRCm39) |
missense |
probably benign |
0.01 |
R5599:Ankhd1
|
UTSW |
18 |
36,693,860 (GRCm39) |
missense |
probably damaging |
0.98 |
R5659:Ankhd1
|
UTSW |
18 |
36,694,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R5750:Ankhd1
|
UTSW |
18 |
36,757,955 (GRCm39) |
missense |
probably benign |
0.00 |
R5874:Ankhd1
|
UTSW |
18 |
36,773,322 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5894:Ankhd1
|
UTSW |
18 |
36,780,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R5969:Ankhd1
|
UTSW |
18 |
36,733,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Ankhd1
|
UTSW |
18 |
36,758,179 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6190:Ankhd1
|
UTSW |
18 |
36,744,862 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6247:Ankhd1
|
UTSW |
18 |
36,787,199 (GRCm39) |
missense |
probably benign |
0.00 |
R6512:Ankhd1
|
UTSW |
18 |
36,724,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R6649:Ankhd1
|
UTSW |
18 |
36,733,836 (GRCm39) |
splice site |
probably null |
|
R6653:Ankhd1
|
UTSW |
18 |
36,733,836 (GRCm39) |
splice site |
probably null |
|
R6763:Ankhd1
|
UTSW |
18 |
36,776,022 (GRCm39) |
missense |
probably benign |
0.31 |
R6976:Ankhd1
|
UTSW |
18 |
36,781,307 (GRCm39) |
missense |
probably benign |
0.00 |
R7075:Ankhd1
|
UTSW |
18 |
36,693,042 (GRCm39) |
missense |
|
|
R7208:Ankhd1
|
UTSW |
18 |
36,758,081 (GRCm39) |
missense |
probably benign |
|
R7305:Ankhd1
|
UTSW |
18 |
36,765,258 (GRCm39) |
missense |
|
|
R7615:Ankhd1
|
UTSW |
18 |
36,789,826 (GRCm39) |
missense |
|
|
R7654:Ankhd1
|
UTSW |
18 |
36,727,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R7781:Ankhd1
|
UTSW |
18 |
36,758,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R7842:Ankhd1
|
UTSW |
18 |
36,780,881 (GRCm39) |
missense |
probably benign |
0.00 |
R7965:Ankhd1
|
UTSW |
18 |
36,791,465 (GRCm39) |
missense |
|
|
R8006:Ankhd1
|
UTSW |
18 |
36,781,772 (GRCm39) |
missense |
|
|
R8037:Ankhd1
|
UTSW |
18 |
36,771,676 (GRCm39) |
missense |
probably damaging |
0.98 |
R8123:Ankhd1
|
UTSW |
18 |
36,708,136 (GRCm39) |
missense |
|
|
R8195:Ankhd1
|
UTSW |
18 |
36,787,230 (GRCm39) |
missense |
|
|
R8305:Ankhd1
|
UTSW |
18 |
36,780,219 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8708:Ankhd1
|
UTSW |
18 |
36,727,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R8827:Ankhd1
|
UTSW |
18 |
36,757,633 (GRCm39) |
nonsense |
probably null |
|
R9138:Ankhd1
|
UTSW |
18 |
36,693,961 (GRCm39) |
small deletion |
probably benign |
|
R9139:Ankhd1
|
UTSW |
18 |
36,711,810 (GRCm39) |
missense |
|
|
R9186:Ankhd1
|
UTSW |
18 |
36,767,383 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9245:Ankhd1
|
UTSW |
18 |
36,788,653 (GRCm39) |
missense |
|
|
R9254:Ankhd1
|
UTSW |
18 |
36,777,680 (GRCm39) |
missense |
probably benign |
0.03 |
R9262:Ankhd1
|
UTSW |
18 |
36,765,799 (GRCm39) |
missense |
|
|
R9379:Ankhd1
|
UTSW |
18 |
36,777,680 (GRCm39) |
missense |
probably benign |
0.03 |
R9436:Ankhd1
|
UTSW |
18 |
36,774,654 (GRCm39) |
missense |
probably benign |
0.04 |
R9436:Ankhd1
|
UTSW |
18 |
36,694,041 (GRCm39) |
missense |
probably benign |
0.39 |
R9541:Ankhd1
|
UTSW |
18 |
36,757,697 (GRCm39) |
missense |
|
|
R9584:Ankhd1
|
UTSW |
18 |
36,798,504 (GRCm39) |
missense |
probably benign |
0.06 |
R9664:Ankhd1
|
UTSW |
18 |
36,780,878 (GRCm39) |
missense |
probably benign |
0.03 |
RF001:Ankhd1
|
UTSW |
18 |
36,693,974 (GRCm39) |
small insertion |
probably benign |
|
RF004:Ankhd1
|
UTSW |
18 |
36,693,963 (GRCm39) |
small insertion |
probably benign |
|
RF007:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF008:Ankhd1
|
UTSW |
18 |
36,693,977 (GRCm39) |
small insertion |
probably benign |
|
RF009:Ankhd1
|
UTSW |
18 |
36,693,975 (GRCm39) |
small insertion |
probably benign |
|
RF013:Ankhd1
|
UTSW |
18 |
36,693,979 (GRCm39) |
small insertion |
probably benign |
|
RF016:Ankhd1
|
UTSW |
18 |
36,693,963 (GRCm39) |
small insertion |
probably benign |
|
RF016:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF017:Ankhd1
|
UTSW |
18 |
36,693,962 (GRCm39) |
small insertion |
probably benign |
|
RF018:Ankhd1
|
UTSW |
18 |
36,693,965 (GRCm39) |
small insertion |
probably benign |
|
RF026:Ankhd1
|
UTSW |
18 |
36,693,965 (GRCm39) |
small insertion |
probably benign |
|
RF030:Ankhd1
|
UTSW |
18 |
36,693,980 (GRCm39) |
small insertion |
probably benign |
|
RF030:Ankhd1
|
UTSW |
18 |
36,693,966 (GRCm39) |
small insertion |
probably benign |
|
RF039:Ankhd1
|
UTSW |
18 |
36,693,971 (GRCm39) |
small insertion |
probably benign |
|
RF043:Ankhd1
|
UTSW |
18 |
36,693,970 (GRCm39) |
small insertion |
probably benign |
|
RF046:Ankhd1
|
UTSW |
18 |
36,693,979 (GRCm39) |
small insertion |
probably benign |
|
RF047:Ankhd1
|
UTSW |
18 |
36,693,976 (GRCm39) |
small insertion |
probably benign |
|
RF047:Ankhd1
|
UTSW |
18 |
36,693,970 (GRCm39) |
small insertion |
probably benign |
|
RF049:Ankhd1
|
UTSW |
18 |
36,693,976 (GRCm39) |
small insertion |
probably benign |
|
RF050:Ankhd1
|
UTSW |
18 |
36,693,980 (GRCm39) |
small insertion |
probably benign |
|
RF054:Ankhd1
|
UTSW |
18 |
36,693,982 (GRCm39) |
small insertion |
probably benign |
|
RF057:Ankhd1
|
UTSW |
18 |
36,693,982 (GRCm39) |
small insertion |
probably benign |
|
RF060:Ankhd1
|
UTSW |
18 |
36,693,975 (GRCm39) |
small insertion |
probably benign |
|
RF061:Ankhd1
|
UTSW |
18 |
36,693,974 (GRCm39) |
small insertion |
probably benign |
|
RF062:Ankhd1
|
UTSW |
18 |
36,693,971 (GRCm39) |
small insertion |
probably benign |
|
X0027:Ankhd1
|
UTSW |
18 |
36,757,885 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Ankhd1
|
UTSW |
18 |
36,711,817 (GRCm39) |
nonsense |
probably null |
|
X0066:Ankhd1
|
UTSW |
18 |
36,779,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTCGCTTTCTATTTGATTCTAGTG -3'
(R):5'- CCACATCAGGATTACAAGTTTCTATT -3'
Sequencing Primer
(F):5'- GTCAGTCTTTAAAACTTAGCCT -3'
(R):5'- AAGCCAGACTGCCTATTGTG -3'
|
Posted On |
2016-08-04 |